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Test Name:
Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion/Duplication

• SBMF No:
  44945
• Performance Lab Name:
  ARUP Laboratories
• Test Mnemonic:
  HHT FGA
• ABN:
  Required – Not FDA-Approved
• CPT Code:
  83891; 83896x2; 83898x25; 83904x23; 83909x3; 83912; 83914x2
• Ref Lab Test No:
  0051382
• Also Known As:
  HHT (ACVRL1 and ENG) Sequencing and Deletion/Duplication
• Also See:
  44946 Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Deletion/Duplication
  44947 Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing
• Spec Type:
  Whole blood
• Spec Container:
  Lavender top (EDTA) or pale yellow top (ACD-A or B) tube
• Pref Vol:
  3.0 mL
• Min Vol:
  2.0 mL
• Fasting:
  No
• Patient Prep:
  Counseling and informed consent are recommended for genetic testing
  Forms required:
  Hereditary Hemorrhagic Telangiectasia Consent Form (Full Gene Analysis or Sequencing)
  Patient History for Hereditary Hemorrhagic Telangiectasia (HHT) Testing
• Spec Collect:
  Routine venipuncture
• Spec Process:
  Gently invert tube to mix blood with the anticoagulant
  Do not centrifuge
  Do not remove plasma from cells
  Forward entire tube of unprocessed whole blood to the laboratory
• Spec Store Transport:
  Refrigerated
• Spec Stability:
  3 days room temperature (20-30°C)
  1 week refrigerated (2-8°C)
  Frozen (-20°C): Unacceptable
• Methodology:
  Polymerase Chain Reaction (PCR)
  Sequencing
  Multiplex Ligation-dependent Probe Analysis
• Clinical Significance:
  Refer to:
  
• Reference Range:
  By report

  Interpretive Data:
  Background Information for Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion/Duplication
  Characteristics: Recurrent nosebleeds, telangiectases (mouth, face, hands, GI tract), and arteriovenous malformations (lung, brain, liver, spine).
  Incidence: 1:5,000-10,000
  Inheritance: Autosomal dominant.
  Penetrance: Approaches 100 percent by age 40.
  Cause: Mutations in endoglin (ENG), activin A receptor type II-like 1 (ACVRL1 or ALK1), SMAD4 or other unidentified gene(s).
  Clinical Sensitivity: Approximately 85 percent
  Methodology: Bidirectional sequencing of ENG and ACVRL1 coding regions and exon/intron boundaries; Multiplex Ligation-dependent Probe Analysis (MLPA) to detect large ENG and ACVRL1 gene deletion/duplication; oligonucleotide probes cover all ENG and ACVRL1 coding exons.
  Analytic Sensitivity: 99 percent for sequencing and 90 percent for MLPA.
  Analytic Specificity: 99 percent for sequencing and 98 percent for MLPA.
  Limitations: Rare diagnostic errors can occur due to primer and probe site mutations. The breakpoints of large deletions/duplication cannot be determined Regulatory region, intronic mutations, and mutations in genes other than ENG and ACVRL1 will not be detected.

• Additional Test Info:
  

  Genetic Compliance Statement:
  The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

  Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

• Day Run:
  Varies
• Time Reported:
  Within 5 weeks
• Test Type:
  GENETIC